Canonical Allele Identifier: CA364458247
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479775C>T , CM000668.2:g.52479775C>T GRCh38
NC_000006.11:g.52344573C>T , CM000668.1:g.52344573C>T GRCh37
NC_000006.10:g.52452532C>T NCBI36
NG_016760.1:g.64580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1628C>T MANE Select ENSP00000360107.4:p.Pro543Leu
ENST00000480623.6:c.1628C>T ENSP00000434498.2:p.Pro543Leu
ENST00000635760.1:c.1304C>T ENSP00000489765.1:p.Pro435Leu
ENST00000635812.1:c.*929C>T ENSP00000490859.1:n.*929C>T
ENST00000635866.1:c.*1497C>T ENSP00000489866.1:n.*1497C>T
ENST00000635911.1:n.3146C>T
ENST00000635984.1:c.1304C>T ENSP00000489921.1:p.Pro435Leu
ENST00000635996.1:c.1628C>T ENSP00000490256.1:p.Pro543Leu
ENST00000636107.1:c.1628C>T ENSP00000489680.1:p.Pro543Leu
ENST00000636311.1:n.1522C>T
ENST00000636343.1:c.1294C>T
ENST00000636379.1:c.1340C>T ENSP00000490622.1:p.Pro447Leu
ENST00000636398.1:c.1328C>T ENSP00000489654.1:n.1328C>T
ENST00000636489.1:c.1571C>T ENSP00000489998.1:p.Pro524Leu
ENST00000636616.1:n.1189C>T
ENST00000636702.1:c.1598C>T ENSP00000489623.1:p.Pro533Leu
ENST00000636954.1:c.1571C>T ENSP00000489966.1:p.Pro524Leu
ENST00000637089.1:c.1628C>T ENSP00000489854.1:p.Pro543Leu
ENST00000637121.1:n.1430C>T
ENST00000637263.1:c.1628C>T ENSP00000489700.1:p.Pro543Leu
ENST00000637340.1:n.3553C>T
ENST00000637353.1:c.1628C>T ENSP00000490441.1:p.Pro543Leu
ENST00000637602.1:c.*1329C>T ENSP00000490074.1:n.*1329C>T
ENST00000637849.1:n.1692C>T
ENST00000637892.1:n.1832C>T
ENST00000371068.9:c.1628C>T ENSP00000360107.4:p.Pro543Leu
ENST00000480623.5:c.*2048C>T ENSP00000434498.1:n.*2048C>T
ENST00000538167.2:c.1571C>T ENSP00000444521.1:p.Pro524Leu
NM_001172420.1:c.1571C>T NP_001165891.1:p.Pro524Leu
NM_018100.3:c.1628C>T NP_060570.2:p.Pro543Leu
NR_033327.1:n.3100C>T
NM_018100.4:c.1628C>T MANE Select NP_060570.2:p.Pro543Leu
NM_001172420.2:c.1571C>T NP_001165891.1:p.Pro524Leu
NR_033327.2:n.2954C>T